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Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

Caruana, Georgina; Farlie, Peter G; Hart, Adam H; Bagheri-Fam, Stefan; Wallace, Megan J; Dobbie, Michael S; Gordon, Christopher T; Miller, Kerry A; Whittle, Belinda; Abud, Helen E; Arkell, Ruth; Cole, Timothy; Harley, Vincent R; Smyth, Ian M; Bertram, John F

Description

BACKGROUND Mice harbouring gene mutations that cause phenotypic abnormalities during organogenesis are invaluable tools for linking gene function to normal development and human disorders. To generate mouse models harbouring novel alleles that are involved in organogenesis we conducted a phenotype-driven, genome-wide mutagenesis screen in mice using the mutagen N-ethyl-N-nitrosourea (ENU). METHODOLOGY/PRINCIPAL FINDINGS ENU was injected into male C57BL/6 mice and the mutations transmitted...[Show more]

CollectionsANU Research Publications
Date published: 2013-03-01
Type: Journal article
URI: http://hdl.handle.net/1885/16827
Source: PLoS ONE
DOI: 10.1371/journal.pone.0055429

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